DNAL1

Summary

DNAL1 (dynein axonemal light chain 1, HGNC:23247) is a protein-coding gene on chromosome 14q24.3, encoding Dynein axonemal light chain 1 (Q4LDG9). Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency.

This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 83544 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 16 (Definitive, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 152 total — 7 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 53
• MANE Select transcript: NM_031427

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23247
Approved symbol	DNAL1
Name	dynein axonemal light chain 1
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC12435, 1700010H15RiK, CILD16
Ensembl gene	ENSG00000119661
Ensembl biotype	protein_coding
OMIM	610062
Entrez	83544

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 nonsense_mediated_decay

ENST00000311089, ENST00000553645, ENST00000554113, ENST00000554159, ENST00000554339, ENST00000554871, ENST00000555631, ENST00000555919, ENST00000559993, ENST00000893991, ENST00000914563

RefSeq mRNA: 2 — MANE Select: NM_031427 NM_001201366, NM_031427

CCDS: CCDS45134, CCDS55928

Canonical transcript exons

ENST00000553645 — 8 exons

Exon	Start	End
ENSE00002470058	73644986	73645042
ENSE00002529739	73695902	73703732
ENSE00003541919	73654847	73654885
ENSE00003555555	73671542	73671597
ENSE00003668442	73687259	73687385
ENSE00003677400	73658847	73658956
ENSE00003677805	73661987	73662042
ENSE00003789871	73689375	73689515

Expression profiles

Bgee: expression breadth ubiquitous, 224 present calls, max score 97.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5861 / max 301.4259, expressed in 1718 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
140548	11.5861	1718

Top tissues by expression

253 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	97.88	gold quality
oviduct epithelium	UBERON:0004804	95.65	gold quality
left testis	UBERON:0004533	93.88	gold quality
right testis	UBERON:0004534	93.53	gold quality
bronchial epithelial cell	CL:0002328	93.52	gold quality
bronchus	UBERON:0002185	92.62	gold quality
testis	UBERON:0000473	91.34	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.39	gold quality
calcaneal tendon	UBERON:0003701	88.43	gold quality
corpus callosum	UBERON:0002336	87.64	gold quality
caput epididymis	UBERON:0004358	87.15	gold quality
islet of Langerhans	UBERON:0000006	86.41	gold quality
kidney epithelium	UBERON:0004819	86.22	silver quality
fallopian tube	UBERON:0003889	85.80	gold quality
medial globus pallidus	UBERON:0002477	85.34	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	84.97	gold quality
corpus epididymis	UBERON:0004359	84.95	gold quality
right uterine tube	UBERON:0001302	84.41	gold quality
tendon	UBERON:0000043	84.05	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.04	gold quality
globus pallidus	UBERON:0001875	82.83	gold quality
ventricular zone	UBERON:0003053	82.67	gold quality
pancreatic ductal cell	CL:0002079	82.30	silver quality
cerebellar vermis	UBERON:0004720	82.05	gold quality
adrenal tissue	UBERON:0018303	82.03	gold quality
prefrontal cortex	UBERON:0000451	82.02	gold quality
cortical plate	UBERON:0005343	81.83	gold quality
colonic epithelium	UBERON:0000397	81.73	gold quality
entorhinal cortex	UBERON:0002728	81.16	gold quality
smooth muscle tissue	UBERON:0001135	80.98	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	11.65
E-ANND-3	yes	8.56
E-MTAB-8060	no	202.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

331 targeting DNAL1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3692-3P	99.98	70.27	2139

Literature-anchored findings (GeneRIF, showing 4)

• identification of the human (DNAL1) ortholog of the Chlamydomonas LC1-gene; protein interaction studies demonstrated binding of DNAL1 and DNAH5; DNAL1 considered a candidate for primary ciliary dyskinesia (PMID:15845866)
• DNAL1 mutation could help to elucidate the interaction between the DNAL1 to dynein heavy chain and to tubulin. (PMID:21496787)
• DNAL1 and MAP4 may exert their functions in the HIV life cycle at reverse transcription, prior to nuclear translocation. (PMID:22018492)
• Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations. (PMID:36841509)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnal1	ENSDARG00000034042
danio_rerio	DNAL1	ENSDARG00000097505
mus_musculus	Dnal1	ENSMUSG00000042523
rattus_norvegicus	Dnal1	ENSRNOG00000042333
drosophila_melanogaster	CG10839	FBGN0028858
drosophila_melanogaster	ODA-Dnal1	FBGN0033408

Protein

Protein identifiers

Dynein axonemal light chain 1 — Q4LDG9 (reviewed: Q4LDG9)

All UniProt accessions (7): Q4LDG9, G3V2M0, G3V389, G3V424, G3V5I4, H0YJD6, H0YM28

UniProt curated annotations — full annotation on UniProt →

Function. Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency. Component of the outer arm dynein (ODA). May be involved in a mechanosensory feedback mechanism controlling ODA activity based on external conformational cues by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme. Important for ciliary function in the airways and for the function of the cilia that produce the nodal flow essential for the determination of the left-right asymmetry.

Subunit / interactions. Interacts with ZMYND10 (via C-terminus). Interacts with DNAH5, a outer arm dynein heavy chain. Interacts with tubulin located within the A-tubule of the outer doublets in a ATP-independent manner.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme.

Tissue specificity. Expressed in tissues carrying motile cilia such as respiratory epithelia, ependyma and testis.

Disease relevance. Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017] A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. Outer (ODAs) and inner (IDAs) dynein arms contain the molecular motors that generate the force to move cilia by ATP-dependent reactions. There are two mechanosensory systems that monitor and respond to the mechanical state (curvature) of the axoneme. One system involves the central pair microtubule complex and radial spokes and the second system involves the outer dynein arms.

Similarity. Belongs to the dynein light chain LC1-type family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q4LDG9-1	1	yes
Q4LDG9-2	2
Q4LDG9-3	3

RefSeq proteins (2): NP_001188295, NP_113615* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR025875	Leu-rich_rpt_4	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily

Pfam: PF12799

UniProt features (12 total): repeat 4, splice variant 2, modified residue 2, initiator methionine 1, chain 1, sequence variant 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4LDG9-F1	94.81	0.94

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 2, 56

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 258 (showing top): TGCGCANK_UNKNOWN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, chr14q24, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, KEGG_HUNTINGTONS_DISEASE, GOBP_OUTER_DYNEIN_ARM_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, CYTAGCAAY_UNKNOWN, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, GOCC_CYTOPLASMIC_REGION, TCCCRNNRTGC_UNKNOWN

GO Biological Process (1): outer dynein arm assembly (GO:0036158)

GO Molecular Function (3): alpha-tubulin binding (GO:0043014), dynein heavy chain binding (GO:0045504), protein binding (GO:0005515)

GO Cellular Component (6): cytoplasm (GO:0005737), microtubule (GO:0005874), outer dynein arm (GO:0036157), cytoskeleton (GO:0005856), dynein complex (GO:0030286), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
axonemal dynein complex assembly	1
tubulin binding	1
protein binding	1
binding	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
axonemal dynein complex	1
intracellular membraneless organelle	1
microtubule associated complex	1
catalytic complex	1

Protein interactions and networks

STRING

1354 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAL1	FTCD	O95954	979
DNAL1	SEPSECS	Q9HD40	874
DNAL1	DNAH5	Q8TE73	870
DNAL1	MAP1B	P46821	862
DNAL1	MAP1LC3A	Q9H492	811
DNAL1	GAN	Q9H2C0	764
DNAL1	MAP1A	P78559	669
DNAL1	NUP210	Q8TEM1	666
DNAL1	DYNC1I2	Q13409	634
DNAL1	DYNLL1	P63167	619
DNAL1	ASGR1	P07306	614
DNAL1	SP100	P23497	542
DNAL1	DNALI1	O14645	495
DNAL1	CACNA1B	Q00975	489
DNAL1	DNAI2	Q9GZS0	484

IntAct

8 interactions, top by confidence:

A	B	Type	Score
MFHAS1	PGRMC2	psi-mi:“MI:0914”(association)	0.590
DNAL1	LRRC40	psi-mi:“MI:0915”(physical association)	0.560
DNAL1	RAP1GDS1	psi-mi:“MI:0914”(association)	0.530
DNAL1	ALOX12B	psi-mi:“MI:0914”(association)	0.350
DNAL1	LRRC40	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): RAP1GDS1 (Affinity Capture-MS), RHOA (Affinity Capture-MS), DNAL1 (Two-hybrid), RHOA (Affinity Capture-MS), DNAL1 (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), ALOX12B (Affinity Capture-MS), UBXN6 (Co-fractionation), DNAL1 (Affinity Capture-MS)

ESM2 similar proteins: A0A096MJZ0, D0MYB4, O35125, O94489, P09661, P0C895, P11745, P22194, P36047, P41391, P43333, P45969, P57784, Q05A62, Q08963, Q15435, Q28G94, Q2KID4, Q32PL1, Q3T0W4, Q3UM45, Q4LDG9, Q4P5F9, Q4R8Y8, Q4V8D9, Q4WV66, Q54Q39, Q5BGW9, Q5FVQ9, Q5HZV9, Q5RFS7, Q5U378, Q5U508, Q641R9, Q6BT60, Q6C417, Q6DHB1, Q6DIQ3, Q6GPJ5, Q7S9P4

Diamond homologs: A0A096MJZ0, Q05A62, Q28G94, Q2KID4, Q4LDG9, Q641R9, Q6DHB1, Q8T888, Q9XHH2, Q5PQJ7, Q5QJ74, Q84WJ9, Q8C5W3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

152 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	4
Uncertain significance	40
Likely benign	62
Benign	23

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
2426971	NC_000014.8:g.(?74153942)(74156238_?)del	Pathogenic
2671843	NM_031427.4(DNAL1):c.23_24del (p.Lys8fs)	Pathogenic
2955850	NM_031427.4(DNAL1):c.296G>A (p.Trp99Ter)	Pathogenic
30816	NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)	Pathogenic
406527	NM_031427.4(DNAL1):c.486G>A (p.Trp162Ter)	Pathogenic
406536	NM_031427.4(DNAL1):c.384del (p.Asp129fs)	Pathogenic
662859	NC_000014.9:g.(?73671522)(73671617_?)del	Pathogenic
3576682	NM_031427.4(DNAL1):c.151G>T (p.Glu51Ter)	Likely pathogenic
3576683	NM_031427.4(DNAL1):c.438_439dup (p.Phe147fs)	Likely pathogenic
3576684	NM_031427.4(DNAL1):c.490G>T (p.Glu164Ter)	Likely pathogenic
4294414	NM_031427.4(DNAL1):c.527T>C (p.Leu176Pro)	Likely pathogenic

SpliceAI

1430 predictions. Top by Δscore:

Variant	Effect	Δscore
14:73658953:GCGA:G	donor_gain	1.0000
14:73658954:CGA:C	donor_gain	1.0000
14:73658954:CGAG:C	donor_loss	1.0000
14:73658955:GA:G	donor_gain	1.0000
14:73658955:GAG:G	donor_gain	1.0000
14:73658956:AG:A	donor_loss	1.0000
14:73658957:G:GG	donor_gain	1.0000
14:73658958:TAA:T	donor_loss	1.0000
14:73661983:A:AG	acceptor_gain	1.0000
14:73662043:G:GG	donor_gain	1.0000
14:73671535:A:AG	acceptor_gain	1.0000
14:73671536:C:G	acceptor_gain	1.0000
14:73671536:CTACA:C	acceptor_loss	1.0000
14:73671537:TACAG:T	acceptor_loss	1.0000
14:73671538:ACAG:A	acceptor_loss	1.0000
14:73671539:CA:C	acceptor_loss	1.0000
14:73671540:A:AG	acceptor_gain	1.0000
14:73671540:A:AT	acceptor_loss	1.0000
14:73671541:G:GG	acceptor_gain	1.0000
14:73671541:GA:G	acceptor_gain	1.0000
14:73671593:GACTG:G	donor_gain	1.0000
14:73671594:ACTGG:A	donor_loss	1.0000
14:73671596:TGGT:T	donor_loss	1.0000
14:73671597:GGTA:G	donor_loss	1.0000
14:73671598:G:A	donor_loss	1.0000
14:73671599:TAG:T	donor_loss	1.0000
14:73687157:GGTC:G	donor_gain	1.0000
14:73687254:TTCA:T	acceptor_loss	1.0000
14:73687255:TCA:T	acceptor_loss	1.0000
14:73687256:CA:C	acceptor_loss	1.0000

AlphaMissense

1254 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:73662008:C:A	N58K	0.999
14:73662008:C:G	N58K	0.999
14:73671572:A:T	N80I	0.999
14:73671573:C:A	N80K	0.999
14:73671573:C:G	N80K	0.999
14:73687287:T:C	L98P	0.999
14:73687303:T:A	N103K	0.999
14:73687303:T:G	N103K	0.999
14:73687369:C:A	N125K	0.999
14:73687369:C:G	N125K	0.999
14:73661992:T:C	L53P	0.998
14:73671548:T:C	L72S	0.998
14:73671548:T:G	L72W	0.998
14:73671557:T:C	L75S	0.998
14:73671569:G:C	R79T	0.998
14:73687278:T:C	L95S	0.998
14:73689417:T:C	L145P	0.998
14:73689433:T:A	N150K	0.998
14:73689433:T:G	N150K	0.998
14:73658954:C:G	C50W	0.997
14:73661992:T:A	L53H	0.997
14:73661994:T:C	S54P	0.997
14:73661998:T:C	L55P	0.997
14:73671559:T:C	S76P	0.997
14:73671569:G:T	R79I	0.997
14:73671570:A:C	R79S	0.997
14:73671570:A:T	R79S	0.997
14:73671571:A:G	N80D	0.997
14:73687296:C:T	S101F	0.997
14:73687301:A:T	N103Y	0.997

dbSNP variants (sampled 300 via entrez): RS1000111626 (14:73643300 C>A), RS1000134977 (14:73686477 G>A), RS1000173245 (14:73688061 C>T), RS1000201755 (14:73679741 G>A), RS1000263724 (14:73684848 T>C), RS1000394152 (14:73665539 C>T), RS1000422214 (14:73647226 G>A), RS1000509703 (14:73677037 C>T), RS1000525274 (14:73675384 A>G), RS1000532471 (14:73681815 T>A), RS1000591821 (14:73674162 T>A), RS1000613909 (14:73683347 T>C), RS1000705797 (14:73668929 G>A), RS1000752058 (14:73645420 G>A), RS1000889723 (14:73662733 T>C)

Disease associations

OMIM: gene MIM:610062 | disease phenotypes: MIM:614017, MIM:244400

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 16	Strong	Autosomal recessive
primary ciliary dyskinesia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
primary ciliary dyskinesia 16	Definitive	AR

Mondo (3): primary ciliary dyskinesia 16 (MONDO:0013525), primary ciliary dyskinesia (MONDO:0016575), primary ciliary dyskinesia 1 (MONDO:0009484)

Orphanet (2): Primary ciliary dyskinesia (Orphanet:244), Primary ciliary dyskinesia, Kartagener type (Orphanet:98861)

HPO phenotypes

53 total (30 of 53 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000119	Abnormality of the genitourinary system
HP:0000238	Hydrocephalus
HP:0000365	Hearing impairment
HP:0000389	Chronic otitis media
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000750	Delayed speech and language development
HP:0000924	Abnormality of the skeletal system
HP:0001217	Clubbing
HP:0001627	Abnormal heart morphology
HP:0001669	Transposition of the great arteries
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0001742	Nasal congestion
HP:0001746	Asplenia
HP:0001748	Polysplenia
HP:0002011	Morphological central nervous system abnormality
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0003623	Neonatal onset
HP:0005301	Persistent left superior vena cava
HP:0005425	Recurrent sinopulmonary infections
HP:0006536	Airway obstruction

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
corosolic acid	increases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Lead	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Phthalic Acids	affects methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	increases expression	1

Clinical trials (associated diseases)

71 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02871778	PHASE2	COMPLETED	Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
NCT07318974	PHASE2	ACTIVE_NOT_RECRUITING	Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve
NCT05737485	PHASE1	COMPLETED	Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects
NCT06600425	PHASE1	COMPLETED	A Study to Assess the Safety, Tolerability, Ciliary Rescue, and Pharmacodynamics of RCT1100 in Adults With PCD
NCT06633757	PHASE1	COMPLETED	Study of Inhaled RCT1100 in Adults With PCD Caused by Pathogenic Mutations in the DNAI1 Gene to Measure Mucociliary Clearance
NCT04901715	EARLY_PHASE1	COMPLETED	Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
NCT00005650	Not specified	COMPLETED	Genetic Study of Patients With Primary Ciliary Dyskinesia
NCT00323167	Not specified	COMPLETED	Rare Genetic Disorders of the Breathing Airways
NCT00368446	Not specified	COMPLETED	Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
NCT00450918	Not specified	COMPLETED	Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease
NCT00686309	Not specified	UNKNOWN	Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)
NCT00722878	Not specified	COMPLETED	Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease
NCT00739817	Not specified	UNKNOWN	Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide
NCT00783887	Not specified	COMPLETED	Diagnosis of Primary Ciliary Dyskinesia
NCT00807482	Not specified	RECRUITING	Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
NCT01070914	Not specified	UNKNOWN	Early Detection and Characterization of Primary Ciliary Dyskinesia
NCT01155115	Not specified	COMPLETED	Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia
NCT01246258	Not specified	COMPLETED	Otolith Function in Patients With Primary Ciliary Dyskinesia
NCT01929356	Not specified	RECRUITING	Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia
NCT02389049	Not specified	COMPLETED	Genetics of Primary Ciliary Dyskinesia
NCT02419365	Not specified	RECRUITING	International Primary Ciliary Dyskinesia (PCD) Registry
NCT02699177	Not specified	UNKNOWN	In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry
NCT02704455	Not specified	NOT_YET_RECRUITING	Registry Study on Primary Ciliary Dyskinesia in Chinese Children
NCT03271840	Not specified	COMPLETED	Registry for Primary Ciliary Dyskinesia
NCT03279965	Not specified	UNKNOWN	MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03320382	Not specified	UNKNOWN	Multiple Breath Washout, a Clinimetric Dataset
NCT03370029	Not specified	COMPLETED	Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia
NCT03494894	Not specified	COMPLETED	Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03517865	Not specified	ACTIVE_NOT_RECRUITING	International Primary Ciliary Dyskinesia Cohort
NCT03606200	Not specified	RECRUITING	Swiss Primary Ciliary Dyskinesia Registry
NCT03704207	Not specified	RECRUITING	Utility of PCD Diagnostics to Improve Clinical Care
NCT03704896	Not specified	UNKNOWN	PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients
NCT03801395	Not specified	COMPLETED	PCD New Gene Discovery
NCT03809091	Not specified	UNKNOWN	WGS of Korean Idiopathic Bronchiectasis
NCT03832491	Not specified	COMPLETED	Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia
NCT04161313	Not specified	COMPLETED	Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children
NCT04476433	Not specified	COMPLETED	Intervention in Chronic Pediatric Patients and Their Families.
NCT04489472	Not specified	UNKNOWN	The Effect of a Dietary Supplement Rich in Nitric Oxide in Patients Diagnosed With Primary Ciliary Dyskinesia.
NCT04602481	Not specified	RECRUITING	Living With Primary Ciliary Dyskinesia (Living With PCD)